Abstract
Goldenhar syndrome, a term synonymously used with “oculo—auriculo-vertebral” [1] spectrum is a rare disorder that is apparent at birth. Described as early as 1950's it was initially comprised of malformation of ears and ocular abnormalities it was only in 1963 that vertebral abnormalities were included as signs of this syndrome. This work reports a case 12 year old male who presented in department of GMC with dysmorphic ears and on evaluation was found to have the classical signs of this syndrome. This case did not have the classical ocular findings. Also included is the current protocol for treatment of this syndrome.
Key Words: Deformity, anti convulsants, OAV
Full Text
The Full Text of this article is available as a PDF (117.8 KB).
References
- 1.Gorlin RJ, Pindberg JJ, Cohen MM. Syndromes of the Head and Neck. A Blackiston Division. New York. London and Johannesberg: McGram-Hill Book Co; 1964. Oculo-auriculo-vertebral dysplasia; pp. 546–546. [Google Scholar]
- 2.McKenziel J. The first arch syndrom. Arch Dis Child Hlth. 1958;33:477–86. doi: 10.1136/adc.33.171.477. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Arlt F. Klinische Darstellung der Krankheiten des Teyes. Wien: W. Braunmullen; 1881. [Google Scholar]
- 4.Goldenhar M. Association malformatives de I'oeil et de I'oreill en particulier le syndrome dermoide epibulbaire- appendices-auriculares-fistula auris congenita et ses relations avec la dysostose mandibulofaciale. J Genet Hum. 1952;1:243–82. [Google Scholar]
- 5.Grabb WC. The first and second brachial arch syndrome. Plast Reconstruct Surg. 1965;36:485–508. doi: 10.1097/00006534-196511000-00001. [DOI] [PubMed] [Google Scholar]
- 6.Collins ET. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc UK. 1900;20:190–190. [Google Scholar]
- 7.Hermann J, Opitz JM. A dominently inherited first arch syndrome. Birth Defect. 1969;5:110–2. [Google Scholar]
- 8.Rodríguez JI, Palacios J, Lapunzina P. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. Am J Med Gen. 1993;47:69–74. doi: 10.1002/ajmg.1320470115. [DOI] [PubMed] [Google Scholar]
- 9.Boles DJ, Bodurtha J, Nance WE. Goldenhar complex in discordant monozygotic twins:a case report and review of the literature. Am J Med Gen. 1987;28:103–9. doi: 10.1002/ajmg.1320280115. [DOI] [PubMed] [Google Scholar]
- 10.Lessick M, Vasa R, Israel J. Severe manifestations of oculoauriculovertebral spectrum in a cocaine-exposed infant. J Med Gen. 1991;28:803–4. doi: 10.1136/jmg.28.11.803. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 11.Araneta MR, Moore CI, Onley RS, Edmonds LD, Karcher JA, McDonough C, et al. Goldenhar syndrome among infants born in military hospital to Gulf war veterans. Teratology. 1997;56:244–51. doi: 10.1002/(SICI)1096-9926(199710)56:4<244::AID-TERA3>3.0.CO;2-Z. [DOI] [PubMed] [Google Scholar]
- 12.Summit R. Familial Goldenhar Syndrome. Birth Defects. 1969;5:106–9. [Google Scholar]
- 13.Salmon MA, Lindenbaum RH. Developmental Defects and Syndromes. London: HMM Publishers; 1978. pp. 40–40. [Google Scholar]
- 14.Nakajima H, Goto G, Nakata N. Goldenhar syndrome associated with various cardiovascular malformations. Jnp Circ J. 1998;62:617–20. doi: 10.1253/jcj.62.617. [DOI] [PubMed] [Google Scholar]
- 15.The Dysmorphic Child-An Orthopedic Perspective. Goldberg MJ. Professor of Orthopedic Surgery Tufts University School of Medicine: Boston. Massachusetts.
- 16.Carvalho GJ, Song CS, Vargervik K, Lalwani AK. Auditory and facial nerve dysfunction in patients with hemifacial microsomia. Arch Otolaryngol Head Neck Surg. 1999;125:209–12. doi: 10.1001/archotol.125.2.209. [DOI] [PubMed] [Google Scholar]
- 17.Schaffer AJ, Avery ME. Doenças do Recém-Nascido. 4th edn. São Paulo: Interamericana; 1979. pp. 803–803. [Google Scholar]
